Microphthalmia syndromic 7

Common Name(s)

Microphthalmia syndromic 7

The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder characterized by unilateral or bilateral microphthalmia and linear skin defects--which are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas--in affected females and in utero lethality for males ({23:Wimplinger et al., 2006}). A similar form of congenital linear skin defects, also limited to the face and neck and associated with microcephaly, facial dysmorphism, and other congenital anomalies ({300887}), is caused by mutation in the COX7B gene ({300885}) on chromosome Xq21.
 

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Condition Specific Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Selected X-Linked Disorders: Aicardi Syndrome
 

Status: Recruiting

Condition Summary: Aicardi Syndrome; Brain Disorders

 

Last Updated: 31 Oct 2014

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